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Fig. 1 | Diagnostic Pathology

Fig. 1

From: A novel targeted NGS panel identifies numerous homologous recombination deficiency (HRD)-associated gene mutations in addition to known BRCA mutations

Fig. 1

Heatmap of all variants found by means of the HRD panel. Investigated samples (n = 90) include prostate (n = 5, PC), pancreatic (n = 7, PaC), breast (n = 13, BC) and ovarian cancers (n = 63, OvCa) and are arranged according to their tumor type. All HRD genes with at least one variant are included and listed in the first row. Squares incorporating a white dot symbolize an additional variant in this gene. Below, the mutation rate in all samples per gene is shown in percent. Colored rectangles represent different variant classes: grey = missense variants, deep pink = deletions that lead to a frameshift in the open reading frame, olive = variants effecting the splice site, yellow = variants that lead to a premature stop codon, light blue = insertions that lead to a frameshift and aquamarine = deletions or insertions that do not lead to a frameshift. Only pathogenic, likely pathogenic and variants that were predicted likely pathogenic are presented. Likely benign or benign variants were excluded from further analysis

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